Canonical Allele Identifier: CA608985319

Gene: SACS SGCG

Linked Data

• dbSNP Id: rs1566050041
• gnomAD v2: 13-23898697-C-CGGTGAGCT
• gnomAD v4: 13-23324558-C-CGGTGAGCT
• MyVariant Identifiers: chr13:g.23898697_23898698insGGTGAGCT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324560_23324567dup , CM000675.2:g.23324560_23324567dup	GRCh38
NC_000013.10:g.23898699_23898706dup , CM000675.1:g.23898699_23898706dup	GRCh37
NC_000013.9:g.22796699_22796706dup	NCBI36
NG_008759.1:g.148640_148647dup , LRG_207:g.148640_148647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12451_2186-12444dup (SACS)	ENSP00000508399.1:n.2186-12451_2186-12444dup
ENST00000683210.1:c.2185+29219_2185+29226dup (SACS)	ENSP00000506739.1:n.2185+29219_2185+29226dup
ENST00000684325.1:c.2186-2892_2186-2885dup (SACS)	ENSP00000508121.1:n.2186-2892_2186-2885dup
ENST00000684497.1:c.2186-1922_2186-1915dup (SACS)	ENSP00000507057.1:n.2186-1922_2186-1915dup
ENST00000218867.4:c.*19_*26dup (SGCG) MANE Select	ENSP00000218867.3:n.*19_*26dup
ENST00000218867.3:c.*19_*26dup (SGCG)	ENSP00000218867.3:n.*19_*26dup
NM_000231.2:c.*19_*26dup , LRG_207t1:c.*19_*26dup (SGCG)	NP_000222.1:n.*19_*26dup
XM_005266505.2:c.*19_*26dup (SGCG)	XP_005266562.1:n.*19_*26dup
XM_006719861.2:c.*19_*26dup (SGCG)	XP_006719924.1:n.*19_*26dup
XM_006719861.3:c.*19_*26dup (SGCG)	XP_006719924.1:n.*19_*26dup
XM_024449397.1:c.*19_*26dup (SGCG)	XP_024305165.1:n.*19_*26dup
NM_000231.3:c.*19_*26dup (SGCG) MANE Select	NP_000222.2:n.*19_*26dup
NM_001378244.1:c.*19_*26dup (SGCG)	NP_001365173.1:n.*19_*26dup
NM_001378245.1:c.*19_*26dup (SGCG)	NP_001365174.1:n.*19_*26dup
NM_001378246.1:c.*19_*26dup (SGCG)	NP_001365175.1:n.*19_*26dup